| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs760768093 | 0.882 | 0.160 | 2 | 178533255 | frameshift variant | C/- | delins | 2.4E-05 | 1.4E-05 | 7 | |
| rs779874042 | 0.925 | 0.160 | 2 | 178563493 | stop gained | C/A;T | snv | 2.0E-05 | 2 | ||
| rs751039219 | 2 | 178532605 | stop gained | G/A;T | snv | 2.0E-05; 4.0E-06 | 1 | ||||
| rs995029896 | 0.925 | 0.160 | 2 | 178532670 | stop gained | G/A;C | snv | 4.0E-06; 2.0E-05 | 2 | ||
| rs28933405 | 0.882 | 0.080 | 2 | 178785999 | missense variant | C/A;T | snv | 2.0E-05 | 1 | ||
| rs727504851 | 0.925 | 0.160 | 2 | 178613159 | splice donor variant | A/- | del | 1.6E-05 | 2.8E-05 | 3 | |
| rs574660186 | 0.807 | 0.200 | 2 | 178579702 | stop gained | G/A;C | snv | 1.6E-05 | 3.5E-05 | 7 | |
| rs747365357 | 0.925 | 0.160 | 2 | 178563253 | stop gained | G/A;C;T | snv | 1.6E-05 | 2 | ||
| rs587780494 | 1.000 | 0.120 | 2 | 178775155 | frameshift variant | -/TGTCTGTTTCCTTACA | ins | 1.6E-05 | 2.8E-05 | 1 | |
| rs587780488 | 0.925 | 0.160 | 2 | 178642237 | missense variant | C/G;T | snv | 1.5E-05 | 2 | ||
| rs752856716 | 2 | 178632349 | frameshift variant | -/A | delins | 1.3E-05 | 1 | ||||
| rs769821404 | 0.925 | 0.160 | 2 | 178564409 | stop gained | A/G;T | snv | 1.2E-05 | 7.0E-06 | 2 | |
| rs753334568 | 0.882 | 0.200 | 2 | 178546041 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 3 | |
| rs780512337 | 2 | 178565638 | stop gained | C/A;T | snv | 1.2E-05 | 1 | ||||
| rs112188483 | 0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 | 3 | ||
| rs757082154 | 1.000 | 0.120 | 2 | 178527491 | stop gained | G/A | snv | 1.2E-05 | 8 | ||
| rs772121356 | 2 | 178557730 | stop gained | G/A;T | snv | 1.2E-05 | 1 | ||||
| rs747236787 | 0.925 | 0.160 | 2 | 178604269 | stop gained | G/A;C | snv | 9.8E-06 | 2 | ||
| rs768431507 | 1.000 | 0.040 | 2 | 178605011 | stop gained | G/A | snv | 8.3E-06 | 7.0E-06 | 1 | |
| rs557312035 | 0.925 | 0.160 | 2 | 178564811 | stop gained | G/A;C;T | snv | 8.1E-06 | 3 | ||
| rs730880365 | 1.000 | 0.040 | 2 | 178549998 | frameshift variant | -/T | delins | 8.1E-06 | 3 | ||
| rs757603460 | 0.925 | 0.160 | 2 | 178577446 | frameshift variant | -/GTAT | delins | 8.1E-06 | 2 | ||
| rs767120669 | 1.000 | 0.120 | 2 | 178653292 | stop gained | C/A;T | snv | 8.1E-06 | 1 | ||
| rs869312081 | 2 | 178552997 | frameshift variant | ATTA/- | delins | 8.1E-06 | 1 | ||||
| rs1114167338 | 1.000 | 2 | 178570405 | stop gained | C/A;G;T | snv | 8.1E-06; 8.1E-06 | 1 |